Investigation of the clinical and hematological significance of the first observed hemoglobin Ernz variant [β123(H1) Thr>Asn] in the Turkish population

Authors: RAMAZAN GÜNEŞAÇAR, MUHAMMET MURAT ÇELİK, OKTAY HASAN ÖZTÜRK, MUSTAFA ÇELİK, CEMİL TÜMER, TANJU ÇELİK

Abstract: In this report, we aimed to investigate the clinical and hematological significance of the first observed hemoglobin Ernz variant in the Turkish population. Materials and methods: We identified the Hb Ernz variant in 3 nonrelated females (Probands 1, 2, and 3). Proband 1’s family was also included the study. Hematological data were obtained with an automated cell counter and routine methodology. The beta-globin gene was sequenced by automatic sequencing. Results: Proband 1 was detected as a combination of Hb Ernz/Hb S without any clinical symptoms. Her sister and brother had to be an Hb Ernz/Hb S combination. Her mother and father only showed Hb Ernz and Hb S, respectively. Proband 2 had the Hb Ernz variant with IVS-I 5nt homozygous alpha 2 gene mutation. Proband 3 had a heterozygous Hb Ernz variant. All subjects were clinically and hematologically normal but Proband 2 had low hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, and high red blood cell distribution width levels. Conclusion: In the present study, the Hb Ernz variant is demonstrated for the first time in the Turkish population. Additionally, there is no published report in the world literature of Hb Ernz in combination with IVS-I 5nt homozygote mutation in the alpha-globin gene or Hb S variant. The present report shows that the Hb Ernz variant is not clinically or hematologically significant.

Keywords: Rare hemoglobin variants, hemoglobin Ernz, DNA sequence analysis

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